Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus.

Purpose: This study was designed to localize chromosomal susceptibility loci for comitant strabismus among Japanese families by genome-wide linkage analyses.

Methods: Fifty-five Japanese families, with at least two members with comitant strabismus (esotropia and/or exotropia), were subject to full ophthalmic examination, careful ocular history, and review of medical records. DNA was obtained and genotyping was performed with PCR amplification of 400 microsatellite markers.

ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.

To identify ARIX gene and PHOX2B gene polymorphisms in patients with congenital superior oblique muscle palsy, 3 exons of the ARIX gene and PHOX2B gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 31 patients with congenital superior oblique muscle palsy and in 54 normal individuals. A family with a father and one daughter each having congenital superior oblique muscle palsy was also included in this study. Eleven patients with congenital superior oblique muscle palsy had heterozygous nucleotide changes in the ARIX gene, including 4 patients reported on previously.

Predictive factors for long-term outcome of stereoacuity in Japanese patients with pure accommodative esotropia.

Purpose: To find clinical factors related to the long-term outcome of stereoacuity in Japanese patients with pure accommodative esotropia, including both the refractive type and the nonrefractive type.

Methods: The medical charts of 19 Japanese patients (8 boys and 11 girls) with pure accommodative esotropia who were followed for 10 years or more at Okayama University Hospital were reviewed retrospectively. Refractive accommodative esotropia was diagnosed in 8 patients while nonrefractive accommodative esotropia was diagnosed in 11 patients.

Genome-wide search for strabismus susceptibility loci.

The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or exotropia. A genome-wide search was performed with amplification by polymerase chain reaction of 400 markers in microsatellite regions with approximately 10 cM resolution.

Concordance of strabismic phenotypes in monozygotic versus multizygotic twins and other multiple births.

Purpose: The concordance of strabismic phenotypes was examined in monozygotic versus multizygotic twins and other multiple births to study the role of genetic background in different types of commitant strabismus.

Methods: Medical charts of 45 consecutive pairs of twins (16 monozygotic and 18 dizygotic twins, and 11 with unknown zygosity), 3 sets of triplets (one monozygotic and 2 trizygotic triplets), and one set of quadruzygotic quadruplets examined at 6 institutions between 1973 and 1999 were reviewed retrospectively. The concordance was defined as both or all members having either esotropia or exotropia in common.